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通过杂交回交进行的连锁分析将大麦町犬高尿酸尿症定位到犬染色体03(CFA03)。

Linkage analysis with an interbreed backcross maps Dalmatian hyperuricosuria to CFA03.

作者信息

Safra Noa, Schaible Robert H, Bannasch Danika L

机构信息

Department of Population Health and Reproduction School of Veterinary Medicine, University of California, 1 Shields Avenue, Davis, California 95616, USA.

出版信息

Mamm Genome. 2006 Apr;17(4):340-5. doi: 10.1007/s00335-005-0137-5. Epub 2006 Apr 4.

Abstract

Dalmatians, like humans, excrete uric acid in their urine. All other dogs and most mammals excrete allantoin, a water-soluble compound that is further along the purine degradation pathway. Excretion of uric acid at high concentrations (hyperuricosuria) predisposes Dalmatians to the formation of urinary urate calculi. Hyperuricosuria (huu) is found in all Dalmatians tested and is inherited as an autosomal recessive trait. A genome scan and linkage analysis performed on a Dalmatian x Pointer interbreed backcross detected a single linked marker, REN153P03, located on CFA03. Haplotype analysis of the region around this marker defined a 3.3-Mb interval flanked by single recombination events. This interval, which contains the huu mutation, is estimated to include 24 genes.

摘要

与人类一样,大麦町犬的尿液中会排出尿酸。所有其他犬类和大多数哺乳动物排出的是尿囊素,这是一种沿着嘌呤降解途径进一步代谢的水溶性化合物。高浓度尿酸排泄(高尿酸尿症)使大麦町犬易患尿酸尿结石。在所有接受检测的大麦町犬中都发现了高尿酸尿症(huu),并且它作为常染色体隐性性状遗传。对大麦町犬与指示犬杂交回交后代进行的基因组扫描和连锁分析检测到一个位于CFA03上的单一连锁标记REN153P03。对该标记周围区域的单倍型分析确定了一个由单个重组事件界定的3.3兆碱基区间。这个包含huu突变的区间估计包含24个基因。

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